Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs140511594
rs140511594
13 0.742 0.360 2 165941111 missense variant G/A snv 1.3E-04 1.1E-04 0.710 1.000 2 2011 2014
dbSNP: rs1553508246
rs1553508246
2 0.925 0.200 2 165898769 splice acceptor variant T/C snv 0.700 1.000 1 2011 2011
dbSNP: rs1553506530
rs1553506530
2 0.925 0.200 2 165888354 frameshift variant TA/- delins 0.700 0